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In a Slovene Gypsy family of 19 subjects from. four generations three patients with clinical characteristics compatible with hereditary motor and sensory neuropathy Lom (HMSNL), were found. They had severe distal and milder proximal muscle atrophy and weakness with areflexia of myotatic jerks. Two had facial weakness at the time when already wheelchair bound All sensory modalities were affected distally in the limbs. Sluggish pupillary responses to light and convergence were found. They had skeletal abnormalities. One patient had polydactily on the hand. Nerve conduction studies were compatible with demyelinative polyneuropathy. Nerve biopsy showed mainly axonal loss without hypertrophic changes. Auditory neuropathy was diagnosed in all of them. None of the patients had duplication of 17p1.2-12 or point mutations in the Protein zero. Peripheral myelin protein and Connexin32 genes. Similar disorder that mapped to 8q25 was previously described in some Bulgarian and Italian Gypsy families. Members of our family may suffer from the same hereditary disease and may carry the same ancestor mutation, which was in the past spread in European Gypsy populations.

UNLABELLED: The aim of this work was to assess the hearing impairment in patients with hereditary motor and sensory neuropathy (HMSN). Elevation of pure tone thresholds in the presence of preserved inner ear function as suggested by cochlear microphonics (CM), absent or markedly abnormal brainstem auditory evoked potentials (BAEP), and elevation of speech perception out of proportion to the pure tone loss were found in the patients. From 28 members of a Gypsy family, we examined two siblings aged 31 and 30 years and their nephew aged 20 years, all suffering from HMSN that was associated with auditory neuropathy. All three affected members with difficulty of understanding speech had following investigations: pure tone and speech audiograms, BAEP, cochlear microphonics, and nerve conduction studies (NCV). RESULTS: the older two siblings had a flat 80 dB audiogram, whereas the younger one has flat 20 dB audiogram on the Lt. ear and 30 dB audiogram on the Rt. ear. All had no speech comprehension and no BAEP. Two patients had preserved cochlear microphonics on one ear. Peripheral nerves were electrically not elicitable, however, at the beginning of the disease nerve conduction was slow. CONCLUSION: in all three affected members with distinct clinical picture of HMSN their hearing impairment was proved to be due to severe auditory neuropathy in the presence of preserved inner ear function.

Objective To define auditory nerve and cochlear functions in two families with autosomal dominant axonal Charcot-Marie-Tooth (CMT). Methods Affected members in two families with different point mutations of NF - L gene were screened with auditory brainstem responses (ABRs). Those with abnormal ABRs were further investigated with clinical, neurophysiological and audiological procedures. The point mutations of NF - L gene involved were Glu397Lys in 8 affected members of the family with AN, and Pro22Ser in 9 affected members of the family without AN. Results ABRs and stapedial muscle reflexes were absent or abnormal in affected members of only one family consistent with auditory neuropathy (AN). In them, audiograms, otoacoustic emissions, and speech comprehension were normal. Absent or abnormal ABRs were consistent with slowing of conduction along auditory nerve and/or brainstem auditory pathway. Wave I when present was of normal latency. Conclusions Auditory nerve involvement in the presence of normal cochlear outer hair cell activity is asymptomatic in one of two families with CMT disorder with different point mutations of the NF - L gene. The nerve disorder is consistent with altered synchrony and slowed conduction. Significance The absence of "deafness" may reflect the ability of central mechanisms to compensate for the slowly developing auditory nerve abnormalities.

Members of a Roma (Gypsy) family with hereditary motor and sensory peripheral neuropathy (HMSN) and concomitant auditory and vestibular cranial neuropathies were identified in Kocevje, Slovenia. The illness begins in childhood with a severe and progressive motor disability and the deafness is delayed until the second decade. There are no symptoms of vestibular dysfunction. The family structure is consistent with an autosomal recessive pattern of inheritance and the genetic locus for the disorder is linked to the same region of chromosome 8q24 as other Roma families with HMSN and deafness from Lom, Bulgaria (HMSN-Lom). The present study shows that the deafness is caused by a neuropathy of the auditory nerve with preserved measures of cochlear outer hair cell function (otoacoustic emissions and cochlear microphonics) but absent neural components of auditory brainstem potentials. The hearing loss affects speech comprehension out of proportion to the pure tone loss. Vestibular testing showed absence of caloric responses. Physiological and neuropathological studies of peripheral nerves were compatible with the nerve disorder contemporaneously affecting Schwann cells and axons resulting in both slowed nerve conduction and axonal loss. Genetic linkage studies suggest a refinement of the 8q24 critical region containing the HMSN-Lom locus that affects peripheral motor and sensory nerves as well as the cranial auditory and vestibular nerves.

Follow-up brainstem auditory evoked potential (BAEP) and somatosensory evoked potential (SEP) studies were performed within 72 hours after admission in 127 children with severe head injury (Glasgow Coma Scale score ofor = 8) in order to predict quo ad vitam outcome of posttraumatic coma. Outcomes were categorised as brain death and survival. On first assessment 50 comatose children had normal BAEPs and SEPs. 78% of them survived and 22% deteriorated and died. 45 had abnormal findings. 69% of them improved and survived whilst 31% deteriorated and died. 32 children did not have recordable BAEPs and SEPs. All of them died. Thus, comatose children with normal EP studies have in 78% good prognosis and a bad outcome can be reliably predicted.

The aim of the present work was to establish whether contingent negative variation audiometry (CNV-A) is applicable to children. In a group of 23 children aged 5-7 years, only 10 generated clearly recognizable CNV when tested with the method successfully used in adults. When the procedure was modified by prolonging the S1-S2 interval and by introducing attractive slides to serve as the S2 stimulus and by adopting a slower repetition rate, 9 children randomly selected from the former group generated high-amplitude CNV (10.1 +/- 4 mu V). The CNV-A measurements involving a longer auditory stimulus (S1), lasting nearly to the beginning of S2, and an even slower repetition rate were equally successful in 18 children aged 3-5 years, who generated CNV with an average amplitude of about 9 mu V (range 5-15 mu V). We believe that the basic problem of successful CNV recording in children is to attract their attention to the signals of the CNV paradigm. The child's attentiveness decreases rapidly. The mean difference and the absolute mean difference between the subjective hearing threshold for white noise and the perception threshold for white noise as determined by CNV-A were as follows: 8.8 +/- 8 dB (both values) for the older group, and 3 +/- 10.4 and 8.6 +/- 6.5 dB, respectively, for the younger group. These differences are quite comparable to those obtained in adults. We therefore believe that CNV-A, used in combination with the behavioral method, provides a most reliable estimate of the child's hearing threshold in dubious situations.